Clinical and genetic evaluation of thirty ovarian cancer families.
OBJECTIVE
Our purpose was to determine the prevalence of BRCA1 and BRCA2 germline mutations among patients from ovarian cancer families and to evaluate age at diagnosis, histologic diagnosis, and International Federation of Gynecology and Obstetrics stage in this group.


METHODS
We reviewed 50 ovarian cancer patients from 30 ovarian cancer families and compared relevant clinical characteristics with those of a cancer registry reference group. BRCA1 (exons 2 to 24) and BRCA2 (exon 11) germline mutations were detected by a protein truncation test and sequencing of BRCA1 exon 2 (185delAG mutation) in 25 of the 30 families.


RESULTS
Ten (40%) of 25 families tested revealed a germline BRCA1 or BRCA2 mutation. Patients with ovarian cancer from the study group were young with an advanced International Federation of Gynecology and Obstetrics stage at diagnosis and had a relatively high frequency of serous adenocarcinoma.


CONCLUSIONS
Direct mutation analysis of BRCA1 and BRCA2 revealed a high frequency of germline mutations in ovarian cancer families. Some clinical characteristics of hereditary ovarian cancer may differ from those of sporadic disease.
Zweemer
R P
RP
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Verheijen
R H
RH
Gille
J J
JJ
van Diest
P J
PJ
Pals
G
G
Menko
F H
FH
D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D000483:Alleles; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002886:Chromosomes, Human, Pair 17; D016000:Cluster Analysis; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000032:analysis / Q000737:chemistry / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D015995:Prevalence
D017931:DNA Primers; D004273:DNA, Neoplasm